Canonical Allele Identifier: CA2687401617

Gene: CHD7

Linked Data

• gnomAD v4: 8-60845223-C-CTAA

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60845225_60845226insATA , CM000670.2:g.60845225_60845226insATA	GRCh38
NC_000008.10:g.61757784_61757785insATA , CM000670.1:g.61757784_61757785insATA	GRCh37
NC_000008.9:g.61920338_61920339insATA	NCBI36
NG_007009.1:g.171446_171447insATA , LRG_176:g.171446_171447insATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.5051-25_5051-24insATA	ENSP00000512218.1:n.5051-25_5051-24insATA
ENST00000423902.7:c.5051-25_5051-24insATA MANE Select	ENSP00000392028.1:n.5051-25_5051-24insATA
ENST00000423902.6:c.5051-25_5051-24insATA	ENSP00000392028.1:n.5051-25_5051-24insATA
ENST00000524602.5:c.1717-17004_1717-17003insATA	ENSP00000437061.1:n.1717-17004_1717-17003insATA
NM_001316690.1:c.1717-17004_1717-17003insATA	NP_001303619.1:n.1717-17004_1717-17003insATA
NM_017780.3:c.5051-25_5051-24insATA	NP_060250.2:n.5051-25_5051-24insATA
XM_011517553.1:c.5051-25_5051-24insATA	XP_011515855.1:n.5051-25_5051-24insATA
XM_011517554.1:c.5051-25_5051-24insATA	XP_011515856.1:n.5051-25_5051-24insATA
XM_011517555.1:c.5051-25_5051-24insATA	XP_011515857.1:n.5051-25_5051-24insATA
XM_011517556.1:c.5051-25_5051-24insATA	XP_011515858.1:n.5051-25_5051-24insATA
XM_011517557.1:c.3038-25_3038-24insATA	XP_011515859.1:n.3038-25_3038-24insATA
XM_011517558.1:c.2588-25_2588-24insATA	XP_011515860.1:n.2588-25_2588-24insATA
XM_011517559.1:c.1796-25_1796-24insATA	XP_011515861.1:n.1796-25_1796-24insATA
XM_011517553.2:c.5051-25_5051-24insATA	XP_011515855.1:n.5051-25_5051-24insATA
XM_011517554.3:c.5051-25_5051-24insATA	XP_011515856.1:n.5051-25_5051-24insATA
XM_011517555.2:c.5051-25_5051-24insATA	XP_011515857.1:n.5051-25_5051-24insATA
XM_017013612.1:c.5051-25_5051-24insATA	XP_016869101.1:n.5051-25_5051-24insATA
XM_017013613.1:c.5051-25_5051-24insATA	XP_016869102.1:n.5051-25_5051-24insATA
NM_017780.4:c.5051-25_5051-24insATA MANE Select	NP_060250.2:n.5051-25_5051-24insATA